Introduction
A disease is defined as rare when it affects less than 1 per 2000 people. Most rare diseases result from genetic disorders and occur at birth. Nevertheless, some of these diseases might emerge at older age. These diseases constitute a heavy burden to society, and are considered, therefore, one of the major concerns of general health.
Characteristics of Rare Diseases
- They are usually chronic, progressive, degenerative, and frequently life-threatening diseases.
- Patient’s quality of life is affected by lack or loss of autonomy.
- They cause severe pains and suffering to patients and their families.
- In most cases there are no effective medicines to such diseases.
- About 6000 to 8000 rare diseases have been detected.
- 75% of rare diseases could affect children.
- 30% of rare-disease patients die before their fifth birthday.
- 80% of rare diseases have identifiable genetic origins.
- Some other rare diseases are caused by infections (bacterial or viral), allergies and environmental causes.
Examples of Rare Diseases
There are numerous types of rare diseases: psychiatric, cardiac, chromosomal, dermatological, communicable, endocrinological, urological and orthopedic diseases. Some of these rare diseases, such as hemophilia and albinism have common names known to the public. However, some other diseases are named after the physician who first discovered it, the first patient of such a disease, or even the first hospital where the disease was discovered (e.g. Floating Harbor Syndrome).
Number of Irremediable Rare Diseases
Several rare diseases are incurable, and many of them have not been subject to medical research till now. Rare disease patients, therefore, suffer from lack of necessary and proper health care to find solutions for their health problems such as the inability to precisely diagnose such diseases, and the unavailability of the appropriate medications at health institutions.
Health Challenges Facing Rare Disease Patients
- It is difficult to have a precise and accurate diagnosis for the disease cases.
- Delay of rare disease cases diagnosis.
- Lack and unavailability of scientific and medical information related to rare diseases.
- Limited treatment options currently available for treatment of these diseases.
- Scarcity of experienced physicians and medical centers specialized in the treatment of rare diseases.
- Prohibitively expensive treatment compared with other costs of common diseases treatment.
- Lack of access to medical, social or financial services, for the general practitioners and attending physicians have no sufficient knowledge of such rare diseases.
- Both patients and their families might have social suffering that adversely affects them.
Recommendations for Rare Disease Patients Support and Healthcare Services Development
- Implementing rare-disease comprehensive programs.
- Developing appropriate general health policies.
- Enhancing international cooperation in the field of science research.
- Gaining and sharing scientific knowledge on all rare diseases, not only the most common ones.
- Adopting new diagnosis and treatment methods.
- Raising public awareness of rare diseases.
- Facilitating communication among patients to share experiences and best practices.
- Supporting the more secluded patients and their guardians to provide patients with a new social environment.
- Providing society with total quality information on rare diseases.
- Enacting legislations to support rare disease patients such as encouraging medical research and providing financial support for patients and their families.
- Delivering incentives for pharmaceutical companies to develop medicines for the treatment of rare diseases.
Cooperation and solidarity are substantially important for supporting rare disease patients. Such solidarity could be conducted at various levels, shown as follows
- Solidarity at the level of patients.
- Solidarity at the level of diseases.
- Solidarity at the level of healthcare providers, specialists and patients.
- Solidarity at the level of researchers, pharmaceutical companies, and decision makers.
- Solidarity at the level of countries.